Abstract
The purpose of this paper is to describe a patient with mild features of the Werner syndrome and to stress the usefulness of a generally unappreciated diagnostic chromosomal finding in the Werner syndrome. Chromosomal studies indicated a mosaic constitution: 45,X/46,X,r(X)/47,XXX and translocations involving the X chromosome and chromosomes 16 and 19. She also had a normal 46,XX cell line. Specifically, 10% of her cells had a 45,X chromosome constitution.
Original language | English (US) |
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Pages (from-to) | 119-126 |
Number of pages | 8 |
Journal | Birth Defects: Original Article Series |
Volume | 21 |
Issue number | 2 |
State | Published - Dec 1 1985 |
ASJC Scopus subject areas
- Developmental Biology
- Genetics(clinical)